Which clinical history findings are characteristic of Li-Fraumeni syndrome?

Updated: Nov 13, 2018
  • Author: ; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Answer

Early age of onset, positive family history, and multiple primary malignancies suggest a hereditary cancer syndrome.

Birch and colleagues found that the probands in families with significant cancer history are more likely to be males younger than 24 months at time of diagnosis and are more likely to have tumors with embryonic histologic findings when compared with other children (not affected by Li-Fraumeni syndrome) diagnosed with soft-tissue sarcomas. [28]

Birch et al also showed that mothers of children with soft-tissue sarcomas and osteosarcomas have a 3-fold increased risk of developing breast cancer at young ages. [29]

Curtin et al used the Utah Population Database to look at first-, second-, and third-degree family members of 4,482 pediatric subjects with cancer diagnosed before age 19 years over a 43-year period, compared with matched population controls. They showed that first-degree siblings of pediatric cancer cases faced a 2-fold increased risk of a pediatric cancer diagnosis, with the risk increasing to 3.6-fold if the child was diagnosed prior to age 5 years. Although first-degree relatives of pediatric cases have a slightly increased risk of adult tumors, when they do develop cancer they have a 1.7-fold risk of developing a tumor in the Li-Fraumeni spectrum. [30]


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